Arteriovenous malformations (AVMs) are the major cause of haemorrhagic stroke in young adults, but the causal factors leading to AVM formation are unknown. An important clue is provided by the familial human disease Hereditary Haemorrhagic Telangiectasia (HHT), which is characterised by multi-organ AVMs and bleeding. HHT is inherited in an autosomal dominant manner and most patients carry mutat...

materials and methods a number of 100 patients with imr, normal karyotypes and negative fragile-x and metabolic tests were screened for subtelomeric abnormalities using mlpa technique. results nine of 100 patients showed subtelomeric abnormalities with at least one of the two mlpa kits. deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. ...

the autism spectrum disorders (asds) are common neurodevelopmental disorders estimated to affect 1 in 88 children. asd is a complex condition, result of genetic, epigenetic and environmental factors. however, genetic comopnent seems to play an important role. the loss/gain of 1kb and more nucleotides, copy number variation (cnv), is the significant genetic factor in the etiology of asd. the cnv...